A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28921



Internal ID15481768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1744847..1748601hg38UCSC Ensembl
Outerchr1:1742926..1749175hg38UCSC Ensembl
Innerchr1:1676286..1680040hg19UCSC Ensembl
Outerchr1:1674365..1680614hg19UCSC Ensembl
Innerchr1:1666146..1669900hg18UCSC Ensembl
Outerchr1:1664225..1670474hg18UCSC Ensembl
Innerchr1:1708448..1712202hg17UCSC Ensembl
Outerchr1:1706527..1712776hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386250
hg196250
hg186250
hg176250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10161
Supporting Variants
SamplesNA10839
Known GenesSLC35E2
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv28921
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer